PHRF’s Top  Tips for Managing Constipation in Pitt Hopkins Syndrome

Constipation is extremely common in Pitt Hopkins Syndrome and, for some children, can become severe. The key is to stay ahead of it rather than waiting until your child is significantly backed up.

1. BOWEL MOVEMENT EVERY DAY.

For many children with Pitt Hopkins who are prone to significant constipation, daily stooling should be the goal.

Even one missed day can be the beginning of a backup for some children. Once stool starts accumulating, it can become harder to pass, leading to more stool retention, discomfort, and an increasingly difficult cycle to reverse.

Don’t wait three or four days. Know whether your child pooped today, and work with your child’s GI doctor to have a plan for what to do when they don’t.

2. SOFTEN + PUSH.

This is one of the most important concepts to understand about constipation: softening the stool may be only half the job. The bowel also has to move it out.

Think about a bowel regimen as potentially addressing two different problems:

SOFTEN: Osmotic laxatives draw water into the bowel and make stool softer and easier to pass. Magnesium-based products such as magnesium oxide work primarily this way. PEG/MiraLAX is another osmotic laxative.

PUSH: Stimulant laxatives such as senna stimulate intestinal activity and help propel stool through the colon.

A child can have very soft stool and still be constipated if it isn’t moving through the colon effectively. For some children with PTHS, an effective bowel regimen may need to address both stool consistency and motility.

Your child’s physician should help determine which medications and doses are appropriate.

3. PREVENTION IS MUCH EASIER THAN A CLEAN-OUT.

The best time to treat constipation is before your child becomes severely constipated. That means they must poop every day. If they go one day without pooping, increase senna, Miralax, or magnesium. 

Track bowel movements daily and learn your child’s signs of backup. Irritability, behavioral changes, decreased appetite, disrupted sleep, abdominal distention, or unexplained discomfort may all be clues—particularly in someone who can’t easily tell you what’s wrong.

PTHS experts recommend ongoing monitoring for constipation and establishing an individualized chronic constipation regimen with a gastroenterologist.

4. ALTER THE DIET — SOMETIMES WHAT GOES IN MAKES A BIG DIFFERENCE IN WHAT COMES OUT.

Pay attention to how your child’s GI system responds to different foods. Many PTHS families report improvement in constipation and other GI symptoms after eliminating or reducing dairy and/or gluten.

In children with more significant digestive problems, there may also be difficulty digesting or absorbing certain carbohydrates and sugars, including lactose, fructose, and sucrose. This can contribute to gas, bloating, abdominal discomfort, diarrhea, and sometimes constipation.

Keep a simple food and bowel diary and look for patterns. If certain foods consistently seem to cause problems, talk with your child’s GI doctor or dietitian about whether dietary changes or testing for carbohydrate malabsorption makes sense.

Sometimes changing what goes in can make a big difference in what comes out.

5. MIRALAX ISN’T THE ONLY OPTION.

PEG 3350 (MiraLAX) is widely used for pediatric constipation; however, some children experience gas, bloating, cramping, or other GI symptoms while taking it.

There have also been questions raised by families about long-term pediatric use and reported neurologic or behavioral symptoms, although research has not established that MiraLAX causes serious neurologic or behavioral effects.

Some families may want to discuss magnesium-based alternatives such as MagO7 with their child’s physician. Magnesium oxide works as an osmotic laxative, drawing water into the intestine and softening stool.

MagO7 itself has not been specifically studied in Pitt Hopkins Syndrome so it should be considered an option to discuss with your medical team rather than a PHRF medical recommendation.

Important: Magnesium laxatives may not be appropriate for children with kidney disease, impaired kidney function, or certain electrolyte problems.

6. DON’T AUTOMATICALLY PILE ON THE FIBER.

“More fiber” isn’t always the answer.

Fiber can be beneficial, but if a child has slow intestinal motility and stool is already sitting in the colon, adding large amounts of fiber can sometimes mean more bulk, gas, bloating, and discomfort without solving the underlying problem.

Every child’s needs are different. In PTHS, constipation may require osmotic agents, stimulants, prokinetics, or other treatments rather than relying on dietary fiber alone.

7. HYDRATE, HYDRATE, HYDRATE.

Adequate fluid helps keep stool soft and is particularly important when using osmotic laxatives.

Some children with PTHS may not independently request enough fluids, so drinking may need to become part of the daily schedule rather than something that happens only when the child asks for it.

8. SUPPORT THE WHOLE DIGESTIVE PROCESS.

Constipation isn’t only about getting stool out at the end. Good digestion starts in the stomach. Stomach acid helps begin protein digestion and creates the acidic environment needed for normal digestion and absorption.

Some families use digestive enzymes and/or Betaine HCl with meals to support this process. Betaine HCl temporarily increases stomach acidity; small human studies have demonstrated that it can rapidly lower stomach pH when stomach acid has been experimentally suppressed.

For a child who seems to have difficulty breaking down food—bloating, excessive fullness, undigested food, poor tolerance of meals, or other persistent GI symptoms—it may be worth discussing with a knowledgeable GI provider whether digestive enzymes, Betaine HCl, or evaluation for an underlying digestive problem makes sense.

9. WATCH FOR SIBO — ESPECIALLY WHEN GAS IS THE BIG PROBLEM.

Sometimes the problem isn’t constipation alone. Excessive gas, significant bloating or abdominal distention, and obvious discomfort even when your child is pooping regularly can be signs that something else is going on.

One possibility to discuss with your GI doctor is small intestinal bacterial overgrowth (SIBO), in which excessive bacteria accumulate in the small intestine. Common symptoms include excessive gas, bloating, abdominal pain or discomfort, distention, diarrhea, nausea, and sometimes problems absorbing nutrients. These symptoms aren’t specific to SIBO, so evaluation is important rather than assuming gas automatically means bacterial overgrowth.

If you suspect SIBO, ask about treatment. Rifaximin is one antibiotic commonly used in children with SIBO, and we’ve also seen good success with Vancomycin. Pediatric evidence is still limited, and recurrent SIBO can require addressing the underlying motility problem as well as the bacterial overgrowth.

If your child is pooping but is still miserable, don’t assume constipation is the whole story. Excessive gas and distention deserve investigation too.

10. KNOW WHEN IT’S MORE THAN CONSTIPATION.

Don’t automatically assume significant abdominal distress is simply another episode of constipation.

Severe abdominal pain, significant or rapidly increasing abdominal distention, repeated vomiting—particularly green/bilious vomiting—or a child who appears acutely ill requires prompt medical evaluation.

PTHS has been associated with serious gastrointestinal complications, including intestinal malrotation and volvulus. Bilious vomiting with severe abdominal pain or distention is an emergency.

11. FOR SEVERE CASES, DON’T BE AFRAID TO ASK ABOUT AN APPENDICOSTOMY OR CECOSTOMY.

When constipation remains severe despite medications, diet changes, and a carefully managed bowel program, an appendicostomy or cecostomy can be a blessing for some children and families.

Both provide access to the beginning of the colon so fluid can be flushed from the top down, producing an antegrade continence enema (ACE) that helps empty the colon on a predictable schedule. An appendicostomy—often called a Malone or MACE—typically uses the appendix to create a small channel to the abdominal wall. A cecostomy generally uses a tube or button placed directly into the cecum.

For a child who is constantly getting backed up, requiring repeated clean-outs or enemas, or spending significant amounts of time uncomfortable because stool simply isn’t moving, having a reliable way to completely flush the colon can dramatically change day-to-day bowel management.

12. WATCH FOR EoE (Eosinophilic esophagitis)

Eosinophilic esophagitis (EoE) appears to occur at an unusually high rate in Pitt Hopkins Syndrome. EoE is an inflammatory condition of the esophagus, often associated with food or environmental allergies.

Because many people with PTHS can’t tell us that swallowing hurts or that food feels stuck, look for the clues: eating unusually slowly, needing lots of liquid with meals, refusing certain textures, vomiting, reflux/heartburn, abdominal discomfort, eating less, poor weight gain, or seeming uncomfortable during or after meals.

If you see these symptoms—especially in a child who also has eczema, asthma, environmental allergies, or food allergies—ask your gastroenterologist specifically about EoE. Diagnosis requires an upper endoscopy with biopsies; symptoms alone can’t confirm it.

Don’t assume every GI symptom in PTHS is constipation or reflux. Sometimes the problem is higher up. Ask about EoE.